Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33778/fullpdf
Reference11 articles.
1. Aicardi-Goutieres syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity;Crow;Hum Mol Genet,2009
2. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus;Crow;Nat Genet,2006
3. Idiopathic perniosis and its mimics: A clinical and histological study of 38 cases;Crowson;Hum Pathol,1997
4. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures;Dale;Am J Med Genet Part A,2010
5. A de novo p.D18N mutation in TREX1 in a patient with Aicardi-Goutières syndrome;Haaxma;Am J Med Genet Part A,2010
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